ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12348G>A (p.Ala4116=)

gnomAD frequency: 0.00004  dbSNP: rs753882985
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000810983 SCV000951225 likely benign RYR1-related disorder 2023-12-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001728 SCV004838180 likely benign Malignant hyperthermia, susceptibility to, 1 2023-12-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704209 SCV005208287 likely benign not provided criteria provided, single submitter not provided

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